Canonical Allele Identifier: CA277856

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53396235_53396238del , CM000685.2:g.53396235_53396238del	GRCh38
NC_000023.10:g.53423155_53423158del , CM000685.1:g.53423155_53423158del	GRCh37
NC_000023.9:g.53439880_53439883del	NCBI36
NG_006988.2:g.31435_31438del , LRG_773:g.31435_31438del

Transcript Alleles

HGVS	Amino-acid Change
NM_006306.4:c.2853_2856del MANE Select	NP_006297.2:p.Ser951ArgfsTer12
ENST00000322213.9:c.2853_2856del MANE Select	ENSP00000323421.3:p.Ser951ArgfsTer12
NM_001281463.1:c.2787_2790del , LRG_773t1:c.2787_2790del	NP_001268392.1:p.Ser929ArgfsTer12
NM_006306.3:c.2853_2856del , LRG_773t2:c.2853_2856del	NP_006297.2:p.Ser951ArgfsTer12
ENST00000322213.8:c.2853_2856del	ENSP00000323421.3:p.Ser951ArgfsTer12
ENST00000375340.10:c.2787_2790del	ENSP00000364489.7:p.Ser929ArgfsTer12
ENST00000470241.2:c.143_146del
ENST00000674590.1:c.2085_2088del	ENSP00000502626.1:p.Ser695ArgfsTer12
ENST00000675504.1:c.2787_2790del	ENSP00000502524.1:p.Ser929ArgfsTer12