Canonical Allele Identifier: CA1327177473

Gene: ABCA12

Linked Data

• dbSNP Id: rs1700577549

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019501del , CM000664.2:g.215019501del	GRCh38
NC_000002.11:g.215884225del , CM000664.1:g.215884225del	GRCh37
NC_000002.10:g.215592470del	NCBI36
NG_007074.1:g.123929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1544+41del MANE Select	ENSP00000272895.7:n.1544+41del
ENST00000272895.11:c.1544+41del	ENSP00000272895.7:n.1544+41del
ENST00000389661.4:c.590+41del	ENSP00000374312.4:n.590+41del
NM_015657.3:c.590+41del	NP_056472.2:n.590+41del
NM_173076.2:c.1544+41del	NP_775099.2:n.1544+41del
NR_103740.1:n.1788+41del
XM_011510951.1:c.1544+41del	XP_011509253.1:n.1544+41del
XM_011510952.1:c.1544+41del	XP_011509254.1:n.1544+41del
XM_011510951.2:c.1544+41del	XP_011509253.1:n.1544+41del
NM_173076.3:c.1544+41del MANE Select	NP_775099.2:n.1544+41del
NR_103740.2:n.1986+41del
NM_015657.4:c.590+41del	NP_056472.2:n.590+41del