Canonical Allele Identifier: CA2499403044
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648173_34648174insTTTTACCGAATG , CM000671.2:g.34648173_34648174insTTTTACCGAATG GRCh38
NC_000009.11:g.34648170_34648171insTTTTACCGAATG , CM000671.1:g.34648170_34648171insTTTTACCGAATG GRCh37
NC_000009.10:g.34638170_34638171insTTTTACCGAATG NCBI36
NG_009029.1:g.6536_6537insTTTTACCGAATG
NG_028966.1:g.989_990insTTTTACCGAATG
NG_009029.2:g.6585_6586insTTTTACCGAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*152+2_*152+3insTTTTACCGAATG ENSP00000509954.1:n.*152+2_*152+3insTTTTACCGAATG
ENST00000378842.8:c.564+2_564+3insTTTTACCGAATG MANE Select ENSP00000368119.4:n.564+2_564+3insTTTTACCGAATG
ENST00000378842.7:c.564+2_564+3insTTTTACCGAATG ENSP00000368119.3:n.564+2_564+3insTTTTACCGAATG
ENST00000450095.6:c.237+2_237+3insTTTTACCGAATG ENSP00000401956.2:n.237+2_237+3insTTTTACCGAATG
ENST00000472111.5:n.820+2_820+3insTTTTACCGAATG
ENST00000473506.6:c.*152+2_*152+3insTTTTACCGAATG ENSP00000432839.2:n.*152+2_*152+3insTTTTACCGAATG
ENST00000473529.5:n.723+2_723+3insTTTTACCGAATG
ENST00000485531.1:n.1158+2_1158+3insTTTTACCGAATG
ENST00000487381.5:n.949+2_949+3insTTTTACCGAATG
ENST00000489643.6:n.339+2_339+3insTTTTACCGAATG
ENST00000554085.5:c.*308+2_*308+3insTTTTACCGAATG ENSP00000450419.1:n.*308+2_*308+3insTTTTACCGAATG
ENST00000554139.5:n.810+2_810+3insTTTTACCGAATG
ENST00000554550.5:c.*184+2_*184+3insTTTTACCGAATG ENSP00000451435.1:n.*184+2_*184+3insTTTTACCGAATG
ENST00000554638.5:n.1036+2_1036+3insTTTTACCGAATG
ENST00000554897.5:c.*251+2_*251+3insTTTTACCGAATG ENSP00000450942.1:n.*251+2_*251+3insTTTTACCGAATG
ENST00000554944.5:n.913+2_913+3insTTTTACCGAATG
ENST00000555020.5:n.720+2_720+3insTTTTACCGAATG
ENST00000555086.5:n.568+2_568+3insTTTTACCGAATG
ENST00000555214.5:n.385+2_385+3insTTTTACCGAATG
ENST00000556244.1:c.551+2_551+3insTTTTACCGAATG
ENST00000556278.1:c.309+2_309+3insTTTTACCGAATG ENSP00000451792.1:n.309+2_309+3insTTTTACCGAATG
ENST00000556494.5:n.685+2_685+3insTTTTACCGAATG
ENST00000557706.5:n.1126+2_1126+3insTTTTACCGAATG
NM_000155.3:c.564+2_564+3insTTTTACCGAATG NP_000146.2:n.564+2_564+3insTTTTACCGAATG
NM_001258332.1:c.237+2_237+3insTTTTACCGAATG NP_001245261.1:n.237+2_237+3insTTTTACCGAATG
NM_000155.4:c.564+2_564+3insTTTTACCGAATG MANE Select NP_000146.2:n.564+2_564+3insTTTTACCGAATG
NM_001258332.2:c.237+2_237+3insTTTTACCGAATG NP_001245261.1:n.237+2_237+3insTTTTACCGAATG