Canonical Allele Identifier: CA2579615569

Gene: SMC1A

Linked Data

• gnomAD v4: X-53382169-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382169_53382170insA , CM000685.2:g.53382169_53382170insA	GRCh38
NC_000023.10:g.53409090_53409091insA , CM000685.1:g.53409090_53409091insA	GRCh37
NC_000023.9:g.53425815_53425816insA	NCBI36
NG_006988.2:g.45501_45502insT , LRG_773:g.45501_45502insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3437+62_3437+63insT MANE Select	ENSP00000323421.3:n.3437+62_3437+63insT
ENST00000674590.1:c.2669+62_2669+63insT	ENSP00000502626.1:n.2669+62_2669+63insT
ENST00000675504.1:c.3371+62_3371+63insT	ENSP00000502524.1:n.3371+62_3371+63insT
ENST00000322213.8:c.3437+62_3437+63insT	ENSP00000323421.3:n.3437+62_3437+63insT
ENST00000375340.10:c.3371+62_3371+63insT	ENSP00000364489.7:n.3371+62_3371+63insT
ENST00000469129.1:n.355_356insT
ENST00000470241.2:c.727+62_727+63insT
NM_001281463.1:c.3371+62_3371+63insT , LRG_773t1:c.3371+62_3371+63insT	NP_001268392.1:n.3371+62_3371+63insT
NM_006306.3:c.3437+62_3437+63insT , LRG_773t2:c.3437+62_3437+63insT	NP_006297.2:n.3437+62_3437+63insT
NM_006306.4:c.3437+62_3437+63insT MANE Select	NP_006297.2:n.3437+62_3437+63insT