Canonical Allele Identifier: CA536399748

Gene: MCM6

Linked Data

• dbSNP Id: rs1558759324
• gnomAD v2: 2-136616621-CGGCTAATTTTTGTATTTTTAGTAGAGAAAATGGGTTTTCGCCATGTTGGCCA-C
• gnomAD v3: 2-135859051-CGGCTAATTTTTGTATTTTTAGTAGAGAAAATGGGTTTTCGCCATGTTGGCCA-C
• gnomAD v4: 2-135859051-CGGCTAATTTTTGTATTTTTAGTAGAGAAAATGGGTTTTCGCCATGTTGGCCA-C
• MyVariant Identifiers: chr2:g.136616622_136616673del (hg19) ; chr2:g.135859052_135859103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135859056_135859107del , CM000664.2:g.135859056_135859107del	GRCh38
NC_000002.11:g.136616626_136616677del , CM000664.1:g.136616626_136616677del	GRCh37
NC_000002.10:g.136333096_136333147del	NCBI36
NG_008104.2:g.1067_1118del , LRG_338:g.1067_1118del
NG_008958.1:g.22339_22390del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264156.3:c.1362+198_1362+249del MANE Select	ENSP00000264156.2:n.1362+198_1362+249del
ENST00000264156.2:c.1362+198_1362+249del	ENSP00000264156.2:n.1362+198_1362+249del
ENST00000492091.1:n.181+3504_181+3555del
NM_005915.5:c.1362+198_1362+249del	NP_005906.2:n.1362+198_1362+249del
NM_005915.6:c.1362+198_1362+249del MANE Select	NP_005906.2:n.1362+198_1362+249del