Canonical Allele Identifier: CA764559156

Gene: ABCA12

Linked Data

• dbSNP Id: rs1359465368
• MyVariant Identifiers: chr2:g.215884243del (hg19) ; chr2:g.215019519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019519del , CM000664.2:g.215019519del	GRCh38
NC_000002.11:g.215884243del , CM000664.1:g.215884243del	GRCh37
NC_000002.10:g.215592488del	NCBI36
NG_007074.1:g.123909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1544+21del MANE Select	ENSP00000272895.7:n.1544+21del
ENST00000272895.11:c.1544+21del	ENSP00000272895.7:n.1544+21del
ENST00000389661.4:c.590+21del	ENSP00000374312.4:n.590+21del
NM_015657.3:c.590+21del	NP_056472.2:n.590+21del
NM_173076.2:c.1544+21del	NP_775099.2:n.1544+21del
NR_103740.1:n.1788+21del
XM_011510951.1:c.1544+21del	XP_011509253.1:n.1544+21del
XM_011510952.1:c.1544+21del	XP_011509254.1:n.1544+21del
XM_011510951.2:c.1544+21del	XP_011509253.1:n.1544+21del
NM_173076.3:c.1544+21del MANE Select	NP_775099.2:n.1544+21del
NR_103740.2:n.1986+21del
NM_015657.4:c.590+21del	NP_056472.2:n.590+21del