Canonical Allele Identifier: CA2501769816

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648511_34648512del , CM000671.2:g.34648511_34648512del	GRCh38
NC_000009.11:g.34648508_34648509del , CM000671.1:g.34648508_34648509del	GRCh37
NC_000009.10:g.34638508_34638509del	NCBI36
NG_009029.1:g.6874_6875del
NG_028966.1:g.1327_1328del
NG_009029.2:g.6923_6924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+55_*275+56del	ENSP00000509954.1:n.*275+55_*275+56del
ENST00000378842.8:c.687+55_687+56del MANE Select	ENSP00000368119.4:n.687+55_687+56del
ENST00000378842.7:c.687+55_687+56del	ENSP00000368119.3:n.687+55_687+56del
ENST00000450095.6:c.360+55_360+56del	ENSP00000401956.2:n.360+55_360+56del
ENST00000473506.6:c.*275+55_*275+56del	ENSP00000432839.2:n.*275+55_*275+56del
ENST00000473529.5:n.846+55_846+56del
ENST00000487381.5:n.1127_1128del
ENST00000489643.6:n.517_518del
ENST00000554085.5:c.*431+55_*431+56del	ENSP00000450419.1:n.*431+55_*431+56del
ENST00000554550.5:c.*307+55_*307+56del	ENSP00000451435.1:n.*307+55_*307+56del
ENST00000554638.5:n.1159+55_1159+56del
ENST00000555020.5:n.898_899del
ENST00000555086.5:n.691+55_691+56del
ENST00000555214.5:n.563_564del
ENST00000555754.1:n.32+55_32+56del
ENST00000556244.1:c.674+55_674+56del
ENST00000556278.1:c.432+55_432+56del	ENSP00000451792.1:n.432+55_432+56del
ENST00000556494.5:n.863_864del
ENST00000557706.5:n.1249+55_1249+56del
NM_000155.3:c.687+55_687+56del	NP_000146.2:n.687+55_687+56del
NM_001258332.1:c.360+55_360+56del	NP_001245261.1:n.360+55_360+56del
NM_000155.4:c.687+55_687+56del MANE Select	NP_000146.2:n.687+55_687+56del
NM_001258332.2:c.360+55_360+56del	NP_001245261.1:n.360+55_360+56del