Canonical Allele Identifier: CA2739273020

Gene: GUCA1ANB-GUCA1A GUCA1A CIMIP3

Linked Data

• ClinVar Variation Id: 2819950
• ClinVar RCV Id: RCV003706533

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42173768_42173769delinsGT , CM000668.2:g.42173768_42173769delinsGT	GRCh38
NC_000006.11:g.42141506_42141507delinsGT , CM000668.1:g.42141506_42141507delinsGT	GRCh37
NC_000006.10:g.42249484_42249485delinsGT	NCBI36
NG_009938.1:g.23363_23364delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000703265.1:c.*390_*391delinsGT (GUCA1ANB-GUCA1A)	ENSP00000515250.1:n.*390_*391delinsGT
ENST00000703266.1:c.*390_*391delinsGT (GUCA1ANB-GUCA1A)	ENSP00000515251.1:n.*390_*391delinsGT
ENST00000703267.1:c.*653_*654delinsGT (GUCA1ANB-GUCA1A)	ENSP00000515252.1:n.*653_*654delinsGT
ENST00000372958.2:c.155_156delinsGT (GUCA1A) MANE Select	ENSP00000362049.1:p.Ala52Gly
ENST00000394237.6:c.*653_*654delinsGT (CIMIP3)	ENSP00000377784.2:n.*653_*654delinsGT
ENST00000418175.6:c.*390_*391delinsGT (CIMIP3)	ENSP00000388438.2:n.*390_*391delinsGT
ENST00000654459.1:c.155_156delinsGT (GUCA1A)	ENSP00000499539.1:p.Ala52Gly
ENST00000659095.1:c.*390_*391delinsGT (CIMIP3)	ENSP00000499714.1:n.*390_*391delinsGT
ENST00000053469.8:c.155_156delinsGT (GUCA1A)	ENSP00000053469.4:p.Ala52Gly
ENST00000372958.1:c.155_156delinsGT (GUCA1A)	ENSP00000362049.1:p.Ala52Gly
ENST00000394237.5:c.155_156delinsGT (GUCA1A)	ENSP00000377784.1:p.Ala52Gly
ENST00000418175.5:c.155_156delinsGT (GUCA1A)	ENSP00000388438.1:p.Ala52Gly
ENST00000541991.5:c.143_144delinsGT (GUCA1A)	ENSP00000437476.2:p.Ala48Gly
NM_000409.3:c.155_156delinsGT (GUCA1A)	NP_000400.2:p.Ala52Gly
XM_006715073.2:c.-128_-127delinsGT (GUCA1A)	XP_006715136.1:n.-128_-127delinsGT
XM_011514536.1:c.155_156delinsGT (GUCA1A)	XP_011512838.1:p.Ala52Gly
XM_011514537.1:c.155_156delinsGT (GUCA1A)	XP_011512839.1:p.Ala52Gly
XM_011514538.1:c.155_156delinsGT (GUCA1A)	XP_011512840.1:p.Ala52Gly
XM_011514539.1:c.155_156delinsGT (GUCA1A)	XP_011512841.1:p.Ala52Gly
NM_000409.4:c.155_156delinsGT (GUCA1A)	NP_000400.2:p.Ala52Gly
NM_001319061.1:c.155_156delinsGT (GUCA1A)	NP_001305990.1:p.Ala52Gly
NM_001319062.1:c.155_156delinsGT (GUCA1A)	NP_001305991.1:p.Ala52Gly
XM_011514537.2:c.155_156delinsGT (GUCA1A)	XP_011512839.1:p.Ala52Gly
NM_000409.5:c.155_156delinsGT (GUCA1A)	NP_000400.2:p.Ala52Gly
NM_001319061.2:c.155_156delinsGT (GUCA1A)	NP_001305990.1:p.Ala52Gly
NM_001319062.2:c.155_156delinsGT (GUCA1A)	NP_001305991.1:p.Ala52Gly
NM_001384910.1:c.155_156delinsGT (GUCA1A) MANE Select	NP_001371839.1:p.Ala52Gly