Canonical Allele Identifier: CA2695228341
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896074_12896075delinsTCCA , CM000681.2:g.12896074_12896075delinsTCCA GRCh38
NC_000019.9:g.13006888_13006889delinsTCCA , CM000681.1:g.13006888_13006889delinsTCCA GRCh37
NC_000019.8:g.12867888_12867889delinsTCCA NCBI36
NG_009292.1:g.9915_9916delinsTCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.588_589delinsTCCA MANE Select ENSP00000222214.4:p.Tyr197ProfsTer28
ENST00000222214.9:c.588_589delinsTCCA ENSP00000222214.4:p.Tyr197ProfsTer28
ENST00000421816.6:n.566_567delinsTCCA
ENST00000585420.5:n.953_954delinsTCCA
ENST00000590530.5:c.*28_*29delinsTCCA ENSP00000468452.1:n.*28_*29delinsTCCA
ENST00000591043.1:n.624_625delinsTCCA
ENST00000591470.5:c.588_589delinsTCCA ENSP00000466845.1:p.Tyr197ProfsTer28
NM_000159.3:c.588_589delinsTCCA NP_000150.1:p.Tyr197ProfsTer28
NM_013976.3:c.588_589delinsTCCA NP_039663.1:p.Tyr197ProfsTer28
NR_102316.1:n.751_752delinsTCCA
NR_102317.1:n.1004_1005delinsTCCA
XM_006722721.2:c.588_589delinsTCCA XP_006722784.1:p.Tyr197ProfsTer28
XM_011527899.1:c.588_589delinsTCCA XP_011526201.1:p.Tyr197ProfsTer28
XM_011527900.1:c.588_589delinsTCCA XP_011526202.1:p.Tyr197ProfsTer28
XM_011527899.2:c.588_589delinsTCCA XP_011526201.1:p.Tyr197ProfsTer28
XM_011527900.2:c.588_589delinsTCCA XP_011526202.1:p.Tyr197ProfsTer28
XM_017026580.1:c.588_589delinsTCCA XP_016882069.1:p.Tyr197ProfsTer28
NM_000159.4:c.588_589delinsTCCA MANE Select NP_000150.1:p.Tyr197ProfsTer28
NM_013976.4:c.588_589delinsTCCA NP_039663.1:p.Tyr197ProfsTer28
NM_013976.5:c.588_589delinsTCCA NP_039663.1:p.Tyr197ProfsTer28