Canonical Allele Identifier: CA2531471429

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558571_6558575dup , CM000671.2:g.6558571_6558575dup	GRCh38
NC_000009.11:g.6558571_6558575dup , CM000671.1:g.6558571_6558575dup	GRCh37
NC_000009.10:g.6548571_6548575dup	NCBI36
NG_016397.1:g.92118_92122dup , LRG_643:g.92118_92122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2036_2040dup MANE Select	ENSP00000370737.4:p.Leu681PhefsTer14
ENST00000460457.2:n.196_200dup
ENST00000638233.1:n.471_475dup
ENST00000638661.1:c.236_240dup	ENSP00000491369.1:p.Leu81PhefsTer14
ENST00000638694.1:n.223_227dup
ENST00000639318.1:c.236_240dup	ENSP00000491932.1:p.Leu81PhefsTer14
ENST00000639364.1:n.1736_1740dup
ENST00000639443.1:n.1604_1608dup
ENST00000639954.1:n.1744_1748dup
ENST00000640208.1:c.236_240dup	ENSP00000491895.1:p.Leu81PhefsTer12
ENST00000640505.1:n.275_279dup
ENST00000640592.1:n.1919_1923dup
ENST00000321612.6:c.2036_2040dup	ENSP00000370737.3:p.Leu681PhefsTer14
ENST00000460457.1:n.175_179dup
NM_000170.2:c.2036_2040dup , LRG_643t1:c.2036_2040dup	NP_000161.2:p.Leu681PhefsTer14
NM_000170.3:c.2036_2040dup MANE Select	NP_000161.2:p.Leu681PhefsTer14