Canonical Allele Identifier: CA534627829

Gene: GGCX

Linked Data

• dbSNP Id: rs1332494716
• gnomAD v2: 2-85778954-GACC-G
• gnomAD v4: 2-85551831-GACC-G
• MyVariant Identifiers: chr2:g.85778955_85778957del (hg19) ; chr2:g.85551832_85551834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551835_85551837del , CM000664.2:g.85551835_85551837del	GRCh38
NC_000002.11:g.85778958_85778960del , CM000664.1:g.85778958_85778960del	GRCh37
NC_000002.10:g.85632469_85632471del	NCBI36
NG_011811.2:g.14701_14703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6065_6067del
ENST00000482662.2:n.4472_4474del
ENST00000685865.1:n.2424_2426del
ENST00000687250.1:n.2124_2126del
ENST00000687995.1:n.1939_1941del
ENST00000688205.1:c.*1180_*1182del	ENSP00000509673.1:n.*1180_*1182del
ENST00000688788.1:n.1826_1828del
ENST00000689276.1:c.1518_1520del	ENSP00000510012.1:p.Val507del
ENST00000689576.1:c.*206_*208del	ENSP00000508712.1:n.*206_*208del
ENST00000690108.1:c.*1243_*1245del	ENSP00000510617.1:n.*1243_*1245del
ENST00000690468.1:c.*139_*141del	ENSP00000509078.1:n.*139_*141del
ENST00000690595.1:c.912_914del	ENSP00000508979.1:p.Val305del
ENST00000691348.1:c.*139_*141del	ENSP00000509369.1:n.*139_*141del
ENST00000691410.1:c.*1164_*1166del	ENSP00000508479.1:n.*1164_*1166del
ENST00000693287.1:c.903_905del	ENSP00000510264.1:p.Val302del
ENST00000693681.1:c.900_902del	ENSP00000510789.1:p.Val301del
ENST00000233838.9:c.1587_1589del MANE Select	ENSP00000233838.3:p.Val530del
ENST00000233838.8:c.1587_1589del	ENSP00000233838.3:p.Val530del
ENST00000430215.7:c.1416_1418del	ENSP00000408045.3:p.Val473del
ENST00000465637.5:n.179-3830_179-3828del
NM_000821.5:c.1587_1589del	NP_000812.2:p.Val530del
NM_000821.6:c.1587_1589del	NP_000812.2:p.Val530del
NM_001142269.2:c.1416_1418del	NP_001135741.1:p.Val473del
NM_001142269.3:c.1416_1418del	NP_001135741.1:p.Val473del
XM_005264259.3:c.1587_1589del	XP_005264316.1:p.Val530del
XM_011532764.1:c.765_767del	XP_011531066.1:p.Val256del
XM_011532765.1:c.765_767del	XP_011531067.1:p.Val256del
XR_939677.1:n.1500_1502del
XM_005264259.5:c.1587_1589del	XP_005264316.1:p.Val530del
XM_011532764.3:c.765_767del	XP_011531066.1:p.Val256del
XM_011532765.3:c.765_767del	XP_011531067.1:p.Val256del
XM_017003803.2:c.1416_1418del	XP_016859292.1:p.Val473del
XR_001738703.2:n.1500_1502del
NM_000821.7:c.1587_1589del MANE Select	NP_000812.2:p.Val530del
NM_001142269.4:c.1416_1418del	NP_001135741.1:p.Val473del