Canonical Allele Identifier: CA993682338

Gene: GCDH

Linked Data

• gnomAD v3: 19-12896273-G-GAAAAAA
• gnomAD v4: 19-12896273-G-GAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896273_12896274insAAAAAA , CM000681.2:g.12896273_12896274insAAAAAA	GRCh38
NC_000019.9:g.13007087_13007088insAAAAAA , CM000681.1:g.13007087_13007088insAAAAAA	GRCh37
NC_000019.8:g.12868087_12868088insAAAAAA	NCBI36
NG_009292.1:g.10114_10115insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.704_705insAAAAAA MANE Select	ENSP00000222214.4:p.Gly235_Phe236insLysAsn
ENST00000222214.9:c.704_705insAAAAAA	ENSP00000222214.4:p.Gly235_Phe236insLysAsn
ENST00000421816.6:n.682_683insAAAAAA
ENST00000585420.5:n.1034_1035insAAAAAA
ENST00000590530.5:c.*144_*145insAAAAAA	ENSP00000468452.1:n.*144_*145insAAAAAA
ENST00000591043.1:n.740_741insAAAAAA
ENST00000591470.5:c.704_705insAAAAAA	ENSP00000466845.1:p.Gly235_Phe236insLysAsn
NM_000159.3:c.704_705insAAAAAA	NP_000150.1:p.Gly235_Phe236insLysAsn
NM_013976.3:c.704_705insAAAAAA	NP_039663.1:p.Gly235_Phe236insLysAsn
NR_102316.1:n.867_868insAAAAAA
NR_102317.1:n.1085_1086insAAAAAA
XM_006722721.2:c.704_705insAAAAAA	XP_006722784.1:p.Gly235_Phe236insLysAsn
XM_011527899.1:c.704_705insAAAAAA	XP_011526201.1:p.Gly235_Phe236insLysAsn
XM_011527900.1:c.704_705insAAAAAA	XP_011526202.1:p.Gly235_Phe236insLysAsn
XM_011527899.2:c.704_705insAAAAAA	XP_011526201.1:p.Gly235_Phe236insLysAsn
XM_011527900.2:c.704_705insAAAAAA	XP_011526202.1:p.Gly235_Phe236insLysAsn
XM_017026580.1:c.704_705insAAAAAA	XP_016882069.1:p.Gly235_Phe236insLysAsn
NM_000159.4:c.704_705insAAAAAA MANE Select	NP_000150.1:p.Gly235_Phe236insLysAsn
NM_013976.4:c.704_705insAAAAAA	NP_039663.1:p.Gly235_Phe236insLysAsn
NM_013976.5:c.704_705insAAAAAA	NP_039663.1:p.Gly235_Phe236insLysAsn