Canonical Allele Identifier: CA645516078

Gene: ABCA12

Linked Data

• COSMIC: COSM6036813 ; COSM6036814

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011545_215011552del , CM000664.2:g.215011545_215011552del	GRCh38
NC_000002.11:g.215876269_215876276del , CM000664.1:g.215876269_215876276del	GRCh37
NC_000002.10:g.215584514_215584521del	NCBI36
NG_007074.1:g.131881_131888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2224_2231del MANE Select	ENSP00000272895.7:p.Met742LeufsTer17
ENST00000272895.11:c.2224_2231del	ENSP00000272895.7:p.Met742LeufsTer17
ENST00000389661.4:c.1270_1277del	ENSP00000374312.4:p.Met424LeufsTer17
NM_015657.3:c.1270_1277del	NP_056472.2:p.Met424LeufsTer17
NM_173076.2:c.2224_2231del	NP_775099.2:p.Met742LeufsTer17
NR_103740.1:n.2468_2475del
XM_011510951.1:c.2224_2231del	XP_011509253.1:p.Met742LeufsTer17
XM_011510952.1:c.2224_2231del	XP_011509254.1:p.Met742LeufsTer17
XM_011510951.2:c.2224_2231del	XP_011509253.1:p.Met742LeufsTer17
NM_173076.3:c.2224_2231del MANE Select	NP_775099.2:p.Met742LeufsTer17
NR_103740.2:n.2666_2673del
NM_015657.4:c.1270_1277del	NP_056472.2:p.Met424LeufsTer17