Canonical Allele Identifier: CA784510004

Gene: BANK1

Linked Data

• dbSNP Id: rs1423940330
• gnomAD v3: 4-101944037-TGTGAGAGAGAGAGA-T
• gnomAD v4: 4-101944037-TGTGAGAGAGAGAGA-T
• MyVariant Identifiers: chr4:g.102865195_102865208del (hg19) ; chr4:g.101944038_101944051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101944039_101944052del , CM000666.2:g.101944039_101944052del	GRCh38
NC_000004.11:g.102865196_102865209del , CM000666.1:g.102865196_102865209del	GRCh37
NC_000004.10:g.103084219_103084232del	NCBI36
NG_015824.1:g.158433_158446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1206+25850_1206+25863del MANE Select	ENSP00000320509.4:n.1206+25850_1206+25863del
ENST00000322953.8:c.1206+25850_1206+25863del	ENSP00000320509.4:n.1206+25850_1206+25863del
ENST00000428908.5:c.807+25850_807+25863del	ENSP00000412748.1:n.807+25850_807+25863del
ENST00000444316.2:c.1116+25850_1116+25863del	ENSP00000388817.2:n.1116+25850_1116+25863del
ENST00000504592.5:c.1161+25850_1161+25863del	ENSP00000421443.1:n.1161+25850_1161+25863del
ENST00000508653.5:c.807+25850_807+25863del	ENSP00000422314.1:n.807+25850_807+25863del
NM_001083907.2:c.1116+25850_1116+25863del	NP_001077376.2:n.1116+25850_1116+25863del
NM_001127507.2:c.807+25850_807+25863del	NP_001120979.2:n.807+25850_807+25863del
NM_017935.4:c.1206+25850_1206+25863del	NP_060405.4:n.1206+25850_1206+25863del
XM_017008337.2:c.1116+25850_1116+25863del	XP_016863826.1:n.1116+25850_1116+25863del
NM_017935.5:c.1206+25850_1206+25863del MANE Select	NP_060405.5:n.1206+25850_1206+25863del
NM_001083907.3:c.1116+25850_1116+25863del	NP_001077376.3:n.1116+25850_1116+25863del
NM_001127507.3:c.807+25850_807+25863del	NP_001120979.3:n.807+25850_807+25863del