Canonical Allele Identifier: CA1830496214

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558545_6558548delinsGAGA , CM000671.2:g.6558545_6558548delinsGAGA	GRCh38
NC_000009.11:g.6558545_6558548delinsGAGA , CM000671.1:g.6558545_6558548delinsGAGA	GRCh37
NC_000009.10:g.6548545_6548548delinsGAGA	NCBI36
NG_016397.1:g.92145_92148delinsTCTC , LRG_643:g.92145_92148delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+11_2052+14delinsTCTC MANE Select	ENSP00000370737.4:n.2052+11_2052+14delinsTCTC
ENST00000460457.2:n.212+11_212+14delinsTCTC
ENST00000638233.1:n.487+11_487+14delinsTCTC
ENST00000638661.1:c.252+11_252+14delinsTCTC	ENSP00000491369.1:n.252+11_252+14delinsTCTC
ENST00000638694.1:n.239+11_239+14delinsTCTC
ENST00000639318.1:c.252+11_252+14delinsTCTC	ENSP00000491932.1:n.252+11_252+14delinsTCTC
ENST00000639364.1:n.1752+11_1752+14delinsTCTC
ENST00000639443.1:n.1620+11_1620+14delinsTCTC
ENST00000639954.1:n.1760+11_1760+14delinsTCTC
ENST00000640208.1:c.263_266delinsTCTC	ENSP00000491895.1:p.Phe88=
ENST00000640505.1:n.291+11_291+14delinsTCTC
ENST00000640592.1:n.1946_1949delinsTCTC
ENST00000321612.6:c.2052+11_2052+14delinsTCTC	ENSP00000370737.3:n.2052+11_2052+14delinsTCTC
ENST00000460457.1:n.202_205delinsTCTC
NM_000170.2:c.2052+11_2052+14delinsTCTC , LRG_643t1:c.2052+11_2052+14delinsTCTC	NP_000161.2:n.2052+11_2052+14delinsTCTC
NM_000170.3:c.2052+11_2052+14delinsTCTC MANE Select	NP_000161.2:n.2052+11_2052+14delinsTCTC