Canonical Allele Identifier: CA1830492819

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6555802_6555804delinsGAA , CM000671.2:g.6555802_6555804delinsGAA	GRCh38
NC_000009.11:g.6555802_6555804delinsGAA , CM000671.1:g.6555802_6555804delinsGAA	GRCh37
NC_000009.10:g.6545802_6545804delinsGAA	NCBI36
NG_016397.1:g.94889_94891delinsTTC , LRG_643:g.94889_94891delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+349_2202+351delinsTTC MANE Select	ENSP00000370737.4:n.2202+349_2202+351delinsTTC
ENST00000638233.1:n.637+349_637+351delinsTTC
ENST00000638661.1:c.402+349_402+351delinsTTC	ENSP00000491369.1:n.402+349_402+351delinsTTC
ENST00000638694.1:n.389+349_389+351delinsTTC
ENST00000639318.1:c.402+349_402+351delinsTTC	ENSP00000491932.1:n.402+349_402+351delinsTTC
ENST00000639364.1:n.1902+349_1902+351delinsTTC
ENST00000639443.1:n.1770+349_1770+351delinsTTC
ENST00000639954.1:n.1910+349_1910+351delinsTTC
ENST00000640505.1:n.441+349_441+351delinsTTC
ENST00000321612.6:c.2202+349_2202+351delinsTTC	ENSP00000370737.3:n.2202+349_2202+351delinsTTC
NM_000170.2:c.2202+349_2202+351delinsTTC , LRG_643t1:c.2202+349_2202+351delinsTTC	NP_000161.2:n.2202+349_2202+351delinsTTC
NM_000170.3:c.2202+349_2202+351delinsTTC MANE Select	NP_000161.2:n.2202+349_2202+351delinsTTC