Canonical Allele Identifier: CA3586702

Gene: B4GALT7

Linked Data

• dbSNP Id: rs752058967
• ExAC: 5:177036046 T / TAGGTGGTCATGTGGGGAGCCAGC
• gnomAD v2: 5-177036046-T-TAGGTGGTCATGTGGGGAGCCAGC
• gnomAD v4: 5-177609045-T-TAGGTGGTCATGTGGGGAGCCAGC
• MyVariant Identifiers: chr5:g.177036046_177036047insAGGTGGTCATGTGGGGAGCCAGC (hg19) ; chr5:g.177609045_177609046insAGGTGGTCATGTGGGGAGCCAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609049_177609071dup , CM000667.2:g.177609049_177609071dup	GRCh38
NC_000005.9:g.177036050_177036072dup , CM000667.1:g.177036050_177036072dup	GRCh37
NC_000005.8:g.176968656_176968678dup	NCBI36
NG_015977.1:g.13932_13954dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828+35_828+57dup MANE Select	ENSP00000029410.5:n.828+35_828+57dup
ENST00000029410.9:c.828+35_828+57dup	ENSP00000029410.5:n.828+35_828+57dup
ENST00000505145.1:n.1926+35_1926+57dup
ENST00000505433.5:c.*334+35_*334+57dup	ENSP00000425591.1:n.*334+35_*334+57dup
ENST00000515353.1:n.1650+35_1650+57dup
NM_007255.2:c.828+35_828+57dup	NP_009186.1:n.828+35_828+57dup
XM_005265805.2:c.486+35_486+57dup	XP_005265862.1:n.486+35_486+57dup
XM_006714816.2:c.348+35_348+57dup	XP_006714879.1:n.348+35_348+57dup
XM_011534421.1:c.486+35_486+57dup	XP_011532723.1:n.486+35_486+57dup
XM_006714816.4:c.348+35_348+57dup	XP_006714879.1:n.348+35_348+57dup
XM_017008999.2:c.486+35_486+57dup	XP_016864488.1:n.486+35_486+57dup
NM_007255.3:c.828+35_828+57dup MANE Select	NP_009186.1:n.828+35_828+57dup