Canonical Allele Identifier: CA2647575797

Gene: HJV

Linked Data

• gnomAD v4: 1-146019142-G-GCACCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019142_146019143insCACCTC , CM000663.2:g.146019142_146019143insCACCTC	GRCh38
NC_000001.10:g.145415870_145415871insGAGGTG , CM000663.1:g.145415870_145415871insGAGGTG	GRCh37
NC_000001.9:g.144127227_144127228insGAGGTG	NCBI36
NG_011568.1:g.7680_7681insGAGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.657+32_657+33insGAGGTG MANE Select	ENSP00000337014.5:n.657+32_657+33insGAGGTG
ENST00000636675.1:c.-21-443_-21-442insGAGGTG	ENSP00000490072.1:n.-21-443_-21-442insGAGGTG
ENST00000336751.10:c.657+32_657+33insGAGGTG	ENSP00000337014.5:n.657+32_657+33insGAGGTG
ENST00000357836.5:c.318+32_318+33insGAGGTG	ENSP00000350495.5:n.318+32_318+33insGAGGTG
ENST00000475797.1:c.-21-443_-21-442insGAGGTG	ENSP00000425716.1:n.-21-443_-21-442insGAGGTG
ENST00000497365.5:c.-21-443_-21-442insGAGGTG	ENSP00000421820.1:n.-21-443_-21-442insGAGGTG
ENST00000634927.1:c.135-443_135-442insGAGGTG	ENSP00000489347.1:n.135-443_135-442insGAGGTG
NM_001316767.1:c.-21-443_-21-442insGAGGTG	NP_001303696.1:n.-21-443_-21-442insGAGGTG
NM_145277.4:c.318+32_318+33insGAGGTG	NP_660320.3:n.318+32_318+33insGAGGTG
NM_202004.3:c.-21-443_-21-442insGAGGTG	NP_973733.1:n.-21-443_-21-442insGAGGTG
NM_213652.3:c.-21-443_-21-442insGAGGTG	NP_998817.1:n.-21-443_-21-442insGAGGTG
NM_213653.3:c.657+32_657+33insGAGGTG	NP_998818.1:n.657+32_657+33insGAGGTG
XM_005272932.1:c.657+32_657+33insGAGGTG	XP_005272989.1:n.657+32_657+33insGAGGTG
NM_001316767.2:c.-21-443_-21-442insGAGGTG	NP_001303696.1:n.-21-443_-21-442insGAGGTG
NM_145277.5:c.318+32_318+33insGAGGTG	NP_660320.3:n.318+32_318+33insGAGGTG
NM_202004.4:c.-21-443_-21-442insGAGGTG	NP_973733.1:n.-21-443_-21-442insGAGGTG
NM_213652.4:c.-21-443_-21-442insGAGGTG	NP_998817.1:n.-21-443_-21-442insGAGGTG
NM_001379352.1:c.657+32_657+33insGAGGTG	NP_001366281.1:n.657+32_657+33insGAGGTG
NM_213653.4:c.657+32_657+33insGAGGTG MANE Select	NP_998818.1:n.657+32_657+33insGAGGTG