Canonical Allele Identifier: CA2739265604

Gene: SIM1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.100448583del , CM000668.2:g.100448583del	GRCh38
NC_000006.11:g.100896459del , CM000668.1:g.100896459del	GRCh37
NC_000006.10:g.101003180del	NCBI36
NG_008230.1:g.20095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369208.8:c.641del MANE Select	ENSP00000358210.4:p.Gly214AlafsTer27
ENST00000262901.4:c.641del	ENSP00000262901.4:p.Gly214AlafsTer27
ENST00000369208.7:c.641del	ENSP00000358210.3:p.Gly214AlafsTer27
NM_005068.2:c.641del	NP_005059.2:p.Gly214AlafsTer27
XM_005267100.2:c.641del	XP_005267157.1:p.Gly214AlafsTer27
XM_011536072.1:c.641del	XP_011534374.1:p.Gly214AlafsTer27
XM_011536073.1:c.641del	XP_011534375.1:p.Gly214AlafsTer27
XM_011536072.2:c.641del	XP_011534374.1:p.Gly214AlafsTer27
XM_017011197.1:c.641del	XP_016866686.1:p.Gly214AlafsTer27
NM_001374769.1:c.641del	NP_001361698.1:p.Gly214AlafsTer27
NM_005068.3:c.641del MANE Select	NP_005059.2:p.Gly214AlafsTer27