Canonical Allele Identifier: CA808137497

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1254516583
• gnomAD v3: 5-177609062-AGC-A
• gnomAD v4: 5-177609062-AGC-A
• MyVariant Identifiers: chr5:g.177036064_177036065del (hg19) ; chr5:g.177609063_177609064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609063_177609064del , CM000667.2:g.177609063_177609064del	GRCh38
NC_000005.9:g.177036064_177036065del , CM000667.1:g.177036064_177036065del	GRCh37
NC_000005.8:g.176968670_176968671del	NCBI36
NG_015977.1:g.13946_13947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828+49_828+50del MANE Select	ENSP00000029410.5:n.828+49_828+50del
ENST00000029410.9:c.828+49_828+50del	ENSP00000029410.5:n.828+49_828+50del
ENST00000505145.1:n.1926+49_1926+50del
ENST00000505433.5:c.*334+49_*334+50del	ENSP00000425591.1:n.*334+49_*334+50del
ENST00000515353.1:n.1650+49_1650+50del
NM_007255.2:c.828+49_828+50del	NP_009186.1:n.828+49_828+50del
XM_005265805.2:c.486+49_486+50del	XP_005265862.1:n.486+49_486+50del
XM_006714816.2:c.348+49_348+50del	XP_006714879.1:n.348+49_348+50del
XM_011534421.1:c.486+49_486+50del	XP_011532723.1:n.486+49_486+50del
XM_006714816.4:c.348+49_348+50del	XP_006714879.1:n.348+49_348+50del
XM_017008999.2:c.486+49_486+50del	XP_016864488.1:n.486+49_486+50del
NM_007255.3:c.828+49_828+50del MANE Select	NP_009186.1:n.828+49_828+50del