Canonical Allele Identifier: CA672379038

Gene: HMBS

Linked Data

• dbSNP Id: rs1297459974
• MyVariant Identifiers: chr11:g.118964219_118964220insAATGT (hg19) ; chr11:g.119093509_119093510insAATGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093512_119093516dup , CM000673.2:g.119093512_119093516dup	GRCh38
NC_000011.9:g.118964222_118964226dup , CM000673.1:g.118964222_118964226dup	GRCh37
NC_000011.8:g.118469432_118469436dup	NCBI36
NG_008093.1:g.13636_13640dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*229_*233dup	ENSP00000509288.1:n.*229_*233dup
ENST00000691144.1:n.3530_3534dup
ENST00000691249.1:n.2139_2143dup
ENST00000648374.1:c.*229_*233dup	ENSP00000497255.1:n.*229_*233dup
ENST00000652429.1:c.*229_*233dup MANE Select	ENSP00000498786.1:n.*229_*233dup
ENST00000278715.7:c.*229_*233dup	ENSP00000278715.3:n.*229_*233dup
ENST00000392841.1:c.*229_*233dup	ENSP00000376584.1:n.*229_*233dup
ENST00000442944.6:c.*229_*233dup	ENSP00000392041.2:n.*229_*233dup
ENST00000539045.1:n.814_818dup
ENST00000542729.5:c.*229_*233dup	ENSP00000443058.1:n.*229_*233dup
ENST00000543090.5:c.*229_*233dup	ENSP00000445429.1:n.*229_*233dup
ENST00000543543.5:n.1790_1794dup
ENST00000544387.5:c.*229_*233dup	ENSP00000438424.1:n.*229_*233dup
ENST00000546226.5:n.2077_2081dup
NM_000190.3:c.*229_*233dup	NP_000181.2:n.*229_*233dup
NM_001024382.1:c.*229_*233dup	NP_001019553.1:n.*229_*233dup
NM_001258208.1:c.*229_*233dup	NP_001245137.1:n.*229_*233dup
NM_001258209.1:c.*229_*233dup	NP_001245138.1:n.*229_*233dup
XM_005271531.1:c.*229_*233dup	XP_005271588.1:n.*229_*233dup
XM_005271532.1:c.*229_*233dup	XP_005271589.1:n.*229_*233dup
XM_005271533.2:c.*229_*233dup	XP_005271590.1:n.*229_*233dup
XM_011542796.1:c.*229_*233dup	XP_011541098.1:n.*229_*233dup
NM_000190.4:c.*229_*233dup MANE Select	NP_000181.2:n.*229_*233dup
NM_001024382.2:c.*229_*233dup	NP_001019553.1:n.*229_*233dup
XM_005271533.3:c.*229_*233dup	XP_005271590.1:n.*229_*233dup
XM_017017629.1:c.*229_*233dup	XP_016873118.1:n.*229_*233dup
XM_024448460.1:c.*229_*233dup	XP_024304228.1:n.*229_*233dup
NM_001258208.2:c.*229_*233dup	NP_001245137.1:n.*229_*233dup
NM_001258209.2:c.*229_*233dup	NP_001245138.1:n.*229_*233dup