Canonical Allele Identifier: CA808137027

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1216126032
• gnomAD v3: 5-177608682-CTGT-C
• gnomAD v4: 5-177608682-CTGT-C
• MyVariant Identifiers: chr5:g.177035684_177035686del (hg19) ; chr5:g.177608683_177608685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608684_177608686del , CM000667.2:g.177608684_177608686del	GRCh38
NC_000005.9:g.177035685_177035687del , CM000667.1:g.177035685_177035687del	GRCh37
NC_000005.8:g.176968291_176968293del	NCBI36
NG_015977.1:g.13567_13569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+62_723+64del MANE Select	ENSP00000029410.5:n.723+62_723+64del
ENST00000029410.9:c.723+62_723+64del	ENSP00000029410.5:n.723+62_723+64del
ENST00000505145.1:n.1821+62_1821+64del
ENST00000505433.5:c.*229+62_*229+64del	ENSP00000425591.1:n.*229+62_*229+64del
ENST00000515353.1:n.1320_1322del
NM_007255.2:c.723+62_723+64del	NP_009186.1:n.723+62_723+64del
XM_005265805.2:c.381+62_381+64del	XP_005265862.1:n.381+62_381+64del
XM_006714816.2:c.243+62_243+64del	XP_006714879.1:n.243+62_243+64del
XM_011534421.1:c.381+62_381+64del	XP_011532723.1:n.381+62_381+64del
XM_006714816.4:c.243+62_243+64del	XP_006714879.1:n.243+62_243+64del
XM_017008999.2:c.381+62_381+64del	XP_016864488.1:n.381+62_381+64del
NM_007255.3:c.723+62_723+64del MANE Select	NP_009186.1:n.723+62_723+64del