Canonical Allele Identifier: CA1830496279

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558575_6558578delinsACTG , CM000671.2:g.6558575_6558578delinsACTG	GRCh38
NC_000009.11:g.6558575_6558578delinsACTG , CM000671.1:g.6558575_6558578delinsACTG	GRCh37
NC_000009.10:g.6548575_6548578delinsACTG	NCBI36
NG_016397.1:g.92115_92118delinsCAGT , LRG_643:g.92115_92118delinsCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2033_2036delinsCAGT MANE Select	ENSP00000370737.4:p.Ala678=
ENST00000460457.2:n.193_196delinsCAGT
ENST00000638233.1:n.468_471delinsCAGT
ENST00000638661.1:c.233_236delinsCAGT	ENSP00000491369.1:p.Ala78=
ENST00000638694.1:n.220_223delinsCAGT
ENST00000639318.1:c.233_236delinsCAGT	ENSP00000491932.1:p.Ala78=
ENST00000639364.1:n.1733_1736delinsCAGT
ENST00000639443.1:n.1601_1604delinsCAGT
ENST00000639954.1:n.1741_1744delinsCAGT
ENST00000640208.1:c.233_236delinsCAGT	ENSP00000491895.1:p.Ala78=
ENST00000640505.1:n.272_275delinsCAGT
ENST00000640592.1:n.1916_1919delinsCAGT
ENST00000321612.6:c.2033_2036delinsCAGT	ENSP00000370737.3:p.Ala678=
ENST00000460457.1:n.172_175delinsCAGT
NM_000170.2:c.2033_2036delinsCAGT , LRG_643t1:c.2033_2036delinsCAGT	NP_000161.2:p.Ala678=
NM_000170.3:c.2033_2036delinsCAGT MANE Select	NP_000161.2:p.Ala678=