Canonical Allele Identifier: CA2676758949

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608747-TGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608748_177608751del , CM000667.2:g.177608748_177608751del	GRCh38
NC_000005.9:g.177035749_177035752del , CM000667.1:g.177035749_177035752del	GRCh37
NC_000005.8:g.176968355_176968358del	NCBI36
NG_015977.1:g.13631_13634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+126_723+129del MANE Select	ENSP00000029410.5:n.723+126_723+129del
ENST00000029410.9:c.723+126_723+129del	ENSP00000029410.5:n.723+126_723+129del
ENST00000505145.1:n.1821+126_1821+129del
ENST00000505433.5:c.*229+126_*229+129del	ENSP00000425591.1:n.*229+126_*229+129del
ENST00000515353.1:n.1384_1387del
NM_007255.2:c.723+126_723+129del	NP_009186.1:n.723+126_723+129del
XM_005265805.2:c.381+126_381+129del	XP_005265862.1:n.381+126_381+129del
XM_006714816.2:c.243+126_243+129del	XP_006714879.1:n.243+126_243+129del
XM_011534421.1:c.381+126_381+129del	XP_011532723.1:n.381+126_381+129del
XM_006714816.4:c.243+126_243+129del	XP_006714879.1:n.243+126_243+129del
XM_017008999.2:c.381+126_381+129del	XP_016864488.1:n.381+126_381+129del
NM_007255.3:c.723+126_723+129del MANE Select	NP_009186.1:n.723+126_723+129del