Canonical Allele Identifier: CA1845637998

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648126_34648128delinsCAA , CM000671.2:g.34648126_34648128delinsCAA	GRCh38
NC_000009.11:g.34648123_34648125delinsCAA , CM000671.1:g.34648123_34648125delinsCAA	GRCh37
NC_000009.10:g.34638123_34638125delinsCAA	NCBI36
NG_009029.1:g.6489_6491delinsCAA
NG_028966.1:g.942_944delinsCAA
NG_009029.2:g.6538_6540delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*107_*109delinsCAA	ENSP00000509954.1:n.*107_*109delinsCAA
ENST00000378842.8:c.519_521delinsCAA MANE Select	ENSP00000368119.4:p.Asn173=
ENST00000378842.7:c.519_521delinsCAA	ENSP00000368119.3:p.Asn173=
ENST00000450095.6:c.192_194delinsCAA	ENSP00000401956.2:p.Asn64=
ENST00000465543.6:n.858_860delinsCAA
ENST00000472111.5:n.775_777delinsCAA
ENST00000473506.6:c.*107_*109delinsCAA	ENSP00000432839.2:n.*107_*109delinsCAA
ENST00000473529.5:n.678_680delinsCAA
ENST00000485531.1:n.1113_1115delinsCAA
ENST00000487381.5:n.904_906delinsCAA
ENST00000489643.6:n.294_296delinsCAA
ENST00000554085.5:c.*263_*265delinsCAA	ENSP00000450419.1:n.*263_*265delinsCAA
ENST00000554139.5:n.765_767delinsCAA
ENST00000554550.5:c.*139_*141delinsCAA	ENSP00000451435.1:n.*139_*141delinsCAA
ENST00000554638.5:n.991_993delinsCAA
ENST00000554897.5:c.*206_*208delinsCAA	ENSP00000450942.1:n.*206_*208delinsCAA
ENST00000554944.5:n.868_870delinsCAA
ENST00000555020.5:n.675_677delinsCAA
ENST00000555086.5:n.523_525delinsCAA
ENST00000555214.5:n.340_342delinsCAA
ENST00000556244.1:c.506_508delinsCAA
ENST00000556278.1:c.264_266delinsCAA	ENSP00000451792.1:p.Asn88=
ENST00000556494.5:n.640_642delinsCAA
ENST00000557706.5:n.1081_1083delinsCAA
NM_000155.3:c.519_521delinsCAA	NP_000146.2:p.Asn173=
NM_001258332.1:c.192_194delinsCAA	NP_001245261.1:p.Asn64=
NM_000155.4:c.519_521delinsCAA MANE Select	NP_000146.2:p.Asn173=
NM_001258332.2:c.192_194delinsCAA	NP_001245261.1:p.Asn64=