Canonical Allele Identifier: CA2676758861

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608680-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608682_177608683del , CM000667.2:g.177608682_177608683del	GRCh38
NC_000005.9:g.177035683_177035684del , CM000667.1:g.177035683_177035684del	GRCh37
NC_000005.8:g.176968289_176968290del	NCBI36
NG_015977.1:g.13565_13566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+60_723+61del MANE Select	ENSP00000029410.5:n.723+60_723+61del
ENST00000029410.9:c.723+60_723+61del	ENSP00000029410.5:n.723+60_723+61del
ENST00000505145.1:n.1821+60_1821+61del
ENST00000505433.5:c.*229+60_*229+61del	ENSP00000425591.1:n.*229+60_*229+61del
ENST00000515353.1:n.1318_1319del
NM_007255.2:c.723+60_723+61del	NP_009186.1:n.723+60_723+61del
XM_005265805.2:c.381+60_381+61del	XP_005265862.1:n.381+60_381+61del
XM_006714816.2:c.243+60_243+61del	XP_006714879.1:n.243+60_243+61del
XM_011534421.1:c.381+60_381+61del	XP_011532723.1:n.381+60_381+61del
XM_006714816.4:c.243+60_243+61del	XP_006714879.1:n.243+60_243+61del
XM_017008999.2:c.381+60_381+61del	XP_016864488.1:n.381+60_381+61del
NM_007255.3:c.723+60_723+61del MANE Select	NP_009186.1:n.723+60_723+61del