Canonical Allele Identifier: CA2429816128

Gene: SMC1A

Linked Data

• dbSNP Id: rs2075566805

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378015_53378017del , CM000685.2:g.53378015_53378017del	GRCh38
NC_000023.10:g.53404936_53404938del , CM000685.1:g.53404936_53404938del	GRCh37
NC_000023.9:g.53421661_53421663del	NCBI36
NG_006988.2:g.49658_49660del , LRG_773:g.49658_49660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*2090_*2092del MANE Select	ENSP00000323421.3:n.*2090_*2092del
ENST00000675504.1:c.*2090_*2092del	ENSP00000502524.1:n.*2090_*2092del
ENST00000322213.8:c.*2090_*2092del	ENSP00000323421.3:n.*2090_*2092del
ENST00000375340.10:c.*2090_*2092del	ENSP00000364489.7:n.*2090_*2092del
NM_001281463.1:c.*2090_*2092del , LRG_773t1:c.*2090_*2092del	NP_001268392.1:n.*2090_*2092del
NM_006306.3:c.*2090_*2092del , LRG_773t2:c.*2090_*2092del	NP_006297.2:n.*2090_*2092del
NM_006306.4:c.*2090_*2092del MANE Select	NP_006297.2:n.*2090_*2092del