Canonical Allele Identifier: CA2689809090

Gene: GALT

Linked Data

• gnomAD v4: 9-34648493-CCTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648496_34648499del , CM000671.2:g.34648496_34648499del	GRCh38
NC_000009.11:g.34648493_34648496del , CM000671.1:g.34648493_34648496del	GRCh37
NC_000009.10:g.34638493_34638496del	NCBI36
NG_009029.1:g.6859_6862del
NG_028966.1:g.1312_1315del
NG_009029.2:g.6908_6911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+40_*275+43del	ENSP00000509954.1:n.*275+40_*275+43del
ENST00000378842.8:c.687+40_687+43del MANE Select	ENSP00000368119.4:n.687+40_687+43del
ENST00000378842.7:c.687+40_687+43del	ENSP00000368119.3:n.687+40_687+43del
ENST00000450095.6:c.360+40_360+43del	ENSP00000401956.2:n.360+40_360+43del
ENST00000473506.6:c.*275+40_*275+43del	ENSP00000432839.2:n.*275+40_*275+43del
ENST00000473529.5:n.846+40_846+43del
ENST00000487381.5:n.1112_1115del
ENST00000489643.6:n.502_505del
ENST00000554085.5:c.*431+40_*431+43del	ENSP00000450419.1:n.*431+40_*431+43del
ENST00000554550.5:c.*307+40_*307+43del	ENSP00000451435.1:n.*307+40_*307+43del
ENST00000554638.5:n.1159+40_1159+43del
ENST00000555020.5:n.883_886del
ENST00000555086.5:n.691+40_691+43del
ENST00000555214.5:n.548_551del
ENST00000555754.1:n.32+40_32+43del
ENST00000556244.1:c.674+40_674+43del
ENST00000556278.1:c.432+40_432+43del	ENSP00000451792.1:n.432+40_432+43del
ENST00000556494.5:n.848_851del
ENST00000557706.5:n.1249+40_1249+43del
NM_000155.3:c.687+40_687+43del	NP_000146.2:n.687+40_687+43del
NM_001258332.1:c.360+40_360+43del	NP_001245261.1:n.360+40_360+43del
NM_000155.4:c.687+40_687+43del MANE Select	NP_000146.2:n.687+40_687+43del
NM_001258332.2:c.360+40_360+43del	NP_001245261.1:n.360+40_360+43del