Canonical Allele Identifier: CA627038978

Gene: BCAS3

Linked Data

• dbSNP Id: rs1422610223
• gnomAD v2: 17-59239230-A-ATTGCT
• MyVariant Identifiers: chr17:g.59239230_59239231insTTGCT (hg19) ; chr17:g.61161869_61161870insTTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61161870_61161874dup , CM000679.2:g.61161870_61161874dup	GRCh38
NC_000017.10:g.59239231_59239235dup , CM000679.1:g.59239231_59239235dup	GRCh37
NC_000017.9:g.56594013_56594017dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000407086.8:c.2425+77306_2425+77310dup MANE Select	ENSP00000385323.2:n.2425+77306_2425+77310...
ENST00000390652.9:c.2470+77306_2470+77310dup	ENSP00000375067.4:n.2470+77306_2470+77310...
ENST00000407086.7:c.2425+77306_2425+77310dup	ENSP00000385323.2:n.2425+77306_2425+77310...
ENST00000408905.7:c.2425+77306_2425+77310dup	ENSP00000386173.2:n.2425+77306_2425+77310...
ENST00000585744.5:c.1783+77306_1783+77310dup	ENSP00000468682.1:n.1783+77306_1783+77310...
ENST00000585812.5:n.20+4395_20+4399dup
ENST00000585979.5:n.903+77306_903+77310dup
ENST00000587002.1:c.187+77306_187+77310dup	ENSP00000464711.1:n.187+77306_187+77310du...
ENST00000587294.5:n.90+2419_90+2423dup
ENST00000588462.5:c.2470+77306_2470+77310dup	ENSP00000468592.1:n.2470+77306_2470+77310...
ENST00000588874.5:c.1738+77306_1738+77310dup	ENSP00000464825.1:n.1738+77306_1738+77310...
ENST00000589222.5:c.2425+77306_2425+77310dup	ENSP00000466078.1:n.2425+77306_2425+77310...
NM_001099432.1:c.2470+77306_2470+77310dup	NP_001092902.1:n.2470+77306_2470+77310dup...
NM_017679.3:c.2425+77306_2425+77310dup	NP_060149.3:n.2425+77306_2425+77310dup
XM_005257472.1:c.2470+77306_2470+77310dup	XP_005257529.1:n.2470+77306_2470+77310dup...
XM_005257475.1:c.2425+77306_2425+77310dup	XP_005257532.1:n.2425+77306_2425+77310dup...
XM_011524939.1:c.2560+77306_2560+77310dup	XP_011523241.1:n.2560+77306_2560+77310dup...
XM_011524940.1:c.2515+77306_2515+77310dup	XP_011523242.1:n.2515+77306_2515+77310dup...
XM_011524941.1:c.2425+77306_2425+77310dup	XP_011523243.1:n.2425+77306_2425+77310dup...
XM_011524942.1:c.2560+77306_2560+77310dup	XP_011523244.1:n.2560+77306_2560+77310dup...
XM_011524943.1:c.2515+77306_2515+77310dup	XP_011523245.1:n.2515+77306_2515+77310dup...
XM_011524944.1:c.2560+77306_2560+77310dup	XP_011523246.1:n.2560+77306_2560+77310dup...
XM_011524945.1:c.2515+77306_2515+77310dup	XP_011523247.1:n.2515+77306_2515+77310dup...
XM_011524947.1:c.2560+77306_2560+77310dup	XP_011523249.1:n.2560+77306_2560+77310dup...
XM_011524949.1:c.2561-73648_2561-73644dup	XP_011523251.1:n.2561-73648_2561-73644dup...
XM_011524950.1:c.2560+77306_2560+77310dup	XP_011523252.1:n.2560+77306_2560+77310dup...
XM_011524951.1:c.2561-3163_2561-3159dup	XP_011523253.1:n.2561-3163_2561-3159dup
XM_011524952.1:c.1738+77306_1738+77310dup	XP_011523254.1:n.1738+77306_1738+77310dup...
NM_001099432.2:c.2470+77306_2470+77310dup	NP_001092902.1:n.2470+77306_2470+77310dup...
NM_001320470.2:c.2425+77306_2425+77310dup	NP_001307399.1:n.2425+77306_2425+77310dup...
NM_001330413.1:c.2470+77306_2470+77310dup	NP_001317342.1:n.2470+77306_2470+77310dup...
NM_001330414.1:c.2425+77306_2425+77310dup	NP_001317343.1:n.2425+77306_2425+77310dup...
NM_001353144.1:c.2560+77306_2560+77310dup	NP_001340073.1:n.2560+77306_2560+77310dup...
NM_001353145.1:c.2515+77306_2515+77310dup	NP_001340074.1:n.2515+77306_2515+77310dup...
NM_001353146.1:c.2470+77306_2470+77310dup	NP_001340075.1:n.2470+77306_2470+77310dup...
NM_017679.4:c.2425+77306_2425+77310dup	NP_060149.3:n.2425+77306_2425+77310dup
XM_011524939.2:c.2560+77306_2560+77310dup	XP_011523241.1:n.2560+77306_2560+77310dup...
XM_011524940.2:c.2515+77306_2515+77310dup	XP_011523242.1:n.2515+77306_2515+77310dup...
XM_011524941.2:c.2425+77306_2425+77310dup	XP_011523243.1:n.2425+77306_2425+77310dup...
XM_011524942.3:c.2560+77306_2560+77310dup	XP_011523244.1:n.2560+77306_2560+77310dup...
XM_011524943.3:c.2515+77306_2515+77310dup	XP_011523245.1:n.2515+77306_2515+77310dup...
XM_011524947.2:c.2560+77306_2560+77310dup	XP_011523249.1:n.2560+77306_2560+77310dup...
XM_011524949.3:c.2561-73648_2561-73644dup	XP_011523251.1:n.2561-73648_2561-73644dup...
XM_011524950.2:c.2560+77306_2560+77310dup	XP_011523252.1:n.2560+77306_2560+77310dup...
XM_011524951.3:c.2561-3163_2561-3159dup	XP_011523253.1:n.2561-3163_2561-3159dup
XM_017024783.2:c.2560+77306_2560+77310dup	XP_016880272.1:n.2560+77306_2560+77310dup...
XM_017024784.2:c.2560+77306_2560+77310dup	XP_016880273.1:n.2560+77306_2560+77310dup...
XM_017024785.2:c.2560+77306_2560+77310dup	XP_016880274.1:n.2560+77306_2560+77310dup...
XM_017024786.2:c.2470+77306_2470+77310dup	XP_016880275.1:n.2470+77306_2470+77310dup...
XM_017024787.2:c.2560+77306_2560+77310dup	XP_016880276.1:n.2560+77306_2560+77310dup...
XM_017024788.2:c.2560+77306_2560+77310dup	XP_016880277.1:n.2560+77306_2560+77310dup...
XM_017024789.2:c.2560+77306_2560+77310dup	XP_016880278.1:n.2560+77306_2560+77310dup...
XM_017024790.2:c.2470+77306_2470+77310dup	XP_016880279.1:n.2470+77306_2470+77310dup...
XM_017024793.2:c.2425+77306_2425+77310dup	XP_016880282.1:n.2425+77306_2425+77310dup...
XM_017024796.1:c.1783+77306_1783+77310dup	XP_016880285.1:n.1783+77306_1783+77310dup...
XM_024450813.1:c.1738+77306_1738+77310dup	XP_024306581.1:n.1738+77306_1738+77310dup...
NM_001099432.3:c.2470+77306_2470+77310dup	NP_001092902.1:n.2470+77306_2470+77310dup...
NM_001320470.3:c.2425+77306_2425+77310dup	NP_001307399.1:n.2425+77306_2425+77310dup...
NM_001330413.2:c.2470+77306_2470+77310dup	NP_001317342.1:n.2470+77306_2470+77310dup...
NM_001330414.2:c.2425+77306_2425+77310dup	NP_001317343.1:n.2425+77306_2425+77310dup...
NM_001353144.2:c.2560+77306_2560+77310dup	NP_001340073.1:n.2560+77306_2560+77310dup...
NM_001353145.2:c.2515+77306_2515+77310dup	NP_001340074.1:n.2515+77306_2515+77310dup...
NM_001353146.2:c.2470+77306_2470+77310dup	NP_001340075.1:n.2470+77306_2470+77310dup...
NM_017679.5:c.2425+77306_2425+77310dup MANE Select	NP_060149.3:n.2425+77306_2425+77310dup