Canonical Allele Identifier: CA2695215743

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093101_119093111del , CM000673.2:g.119093101_119093111del	GRCh38
NC_000011.9:g.118963811_118963821del , CM000673.1:g.118963811_118963821del	GRCh37
NC_000011.8:g.118469021_118469031del	NCBI36
NG_008093.1:g.13225_13235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.748-9_749del
ENST00000691144.1:n.3128-9_3129del
ENST00000691249.1:n.1737-9_1738del
ENST00000442944.7:c.895-9_896del
ENST00000640813.1:c.*150-9_*151del
ENST00000648026.1:c.807-9_808del
ENST00000648374.1:c.862-9_863del
ENST00000650101.1:c.844-9_845del
ENST00000650307.1:n.1739-9_1740del
ENST00000652429.1:c.913-9_914del
ENST00000278715.7:c.913-9_914del
ENST00000392841.1:c.862-9_863del
ENST00000442944.6:c.862-9_863del
ENST00000537841.5:c.862-9_863del
ENST00000539045.1:n.412-9_413del
ENST00000542044.5:n.1358-9_1359del
ENST00000542729.5:c.742-9_743del
ENST00000543090.5:c.820-9_821del
ENST00000543543.5:n.1388-9_1389del
ENST00000544182.1:n.1362-9_1363del
ENST00000544387.5:c.793-9_794del
ENST00000546226.5:n.1675-9_1676del
NM_000190.3:c.913-9_914del
NM_001024382.1:c.862-9_863del
NM_001258208.1:c.793-9_794del
NM_001258209.1:c.742-9_743del
XM_005271531.1:c.862-9_863del
XM_005271532.1:c.862-9_863del
XM_005271533.2:c.859-9_860del
XM_011542796.1:c.748-9_749del
NM_000190.4:c.913-9_914del
NM_001024382.2:c.862-9_863del
XM_005271533.3:c.859-9_860del
XM_017017629.1:c.862-9_863del
XM_024448460.1:c.739-9_740del
NM_001258208.2:c.793-9_794del
NM_001258209.2:c.742-9_743del