Canonical Allele Identifier: CA3038367960

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018409_146018410insCCAAACACACCCAACACA , CM000663.2:g.146018409_146018410insCCAAACACACCCAACACA	GRCh38
NC_000001.10:g.145416612_145416613insTGTGTTTGGTGTGTTGGG , CM000663.1:g.145416612_145416613insTGTGTTTGGTGTGTTGGG	GRCh37
NC_000001.9:g.144127969_144127970insTGTGTTTGGTGTGTTGGG	NCBI36
NG_011568.1:g.8422_8423insTGTGTTTGGTGTGTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.957_958insTGTGTTTGGTGTGTTGGG MANE Select	ENSP00000337014.5:p.Gly319_Gly320insCysValTrpCysValGly
ENST00000636675.1:c.279_280insTGTGTTTGGTGTGTTGGG	ENSP00000490072.1:p.Gly93_Gly94insCysValTrpCysValGly
ENST00000336751.10:c.957_958insTGTGTTTGGTGTGTTGGG	ENSP00000337014.5:p.Gly319_Gly320insCysValTrpCysValGly
ENST00000357836.5:c.618_619insTGTGTTTGGTGTGTTGGG	ENSP00000350495.5:p.Gly206_Gly207insCysValTrpCysValGly
ENST00000475797.1:c.279_280insTGTGTTTGGTGTGTTGGG	ENSP00000425716.1:p.Gly93_Gly94insCysValTrpCysValGly
ENST00000497365.5:c.279_280insTGTGTTTGGTGTGTTGGG	ENSP00000421820.1:p.Gly93_Gly94insCysValTrpCysValGly
NM_001316767.1:c.279_280insTGTGTTTGGTGTGTTGGG	NP_001303696.1:p.Gly93_Gly94insCysValTrpCysValGly
NM_145277.4:c.618_619insTGTGTTTGGTGTGTTGGG	NP_660320.3:p.Gly206_Gly207insCysValTrpCysValGly
NM_202004.3:c.279_280insTGTGTTTGGTGTGTTGGG	NP_973733.1:p.Gly93_Gly94insCysValTrpCysValGly
NM_213652.3:c.279_280insTGTGTTTGGTGTGTTGGG	NP_998817.1:p.Gly93_Gly94insCysValTrpCysValGly
NM_213653.3:c.957_958insTGTGTTTGGTGTGTTGGG	NP_998818.1:p.Gly319_Gly320insCysValTrpCysValGly
XM_005272932.1:c.957_958insTGTGTTTGGTGTGTTGGG	XP_005272989.1:p.Gly319_Gly320insCysValTrpCysValGly
NM_001316767.2:c.279_280insTGTGTTTGGTGTGTTGGG	NP_001303696.1:p.Gly93_Gly94insCysValTrpCysValGly
NM_145277.5:c.618_619insTGTGTTTGGTGTGTTGGG	NP_660320.3:p.Gly206_Gly207insCysValTrpCysValGly
NM_202004.4:c.279_280insTGTGTTTGGTGTGTTGGG	NP_973733.1:p.Gly93_Gly94insCysValTrpCysValGly
NM_213652.4:c.279_280insTGTGTTTGGTGTGTTGGG	NP_998817.1:p.Gly93_Gly94insCysValTrpCysValGly
NM_001379352.1:c.957_958insTGTGTTTGGTGTGTTGGG	NP_001366281.1:p.Gly319_Gly320insCysValTrpCysValGly
NM_213653.4:c.957_958insTGTGTTTGGTGTGTTGGG MANE Select	NP_998818.1:p.Gly319_Gly320insCysValTrpCysValGly