Canonical Allele Identifier: CA1603685879

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1768104070
• gnomAD v4: 5-177609119-CCTGCTTGGCCCAGGTCAGTCGACGGGCATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609128_177609157del , CM000667.2:g.177609128_177609157del	GRCh38
NC_000005.9:g.177036129_177036158del , CM000667.1:g.177036129_177036158del	GRCh37
NC_000005.8:g.176968735_176968764del	NCBI36
NG_015977.1:g.14011_14040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828+114_828+143del MANE Select	ENSP00000029410.5:n.828+114_828+143del
ENST00000029410.9:c.828+114_828+143del	ENSP00000029410.5:n.828+114_828+143del
ENST00000505145.1:n.1926+114_1926+143del
ENST00000505433.5:c.*334+114_*334+143del	ENSP00000425591.1:n.*334+114_*334+143del
ENST00000515353.1:n.1650+114_1650+143del
NM_007255.2:c.828+114_828+143del	NP_009186.1:n.828+114_828+143del
XM_005265805.2:c.486+114_486+143del	XP_005265862.1:n.486+114_486+143del
XM_006714816.2:c.348+114_348+143del	XP_006714879.1:n.348+114_348+143del
XM_011534421.1:c.486+114_486+143del	XP_011532723.1:n.486+114_486+143del
XM_006714816.4:c.348+114_348+143del	XP_006714879.1:n.348+114_348+143del
XM_017008999.2:c.486+114_486+143del	XP_016864488.1:n.486+114_486+143del
NM_007255.3:c.828+114_828+143del MANE Select	NP_009186.1:n.828+114_828+143del