Canonical Allele Identifier: CA2754209616

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978568_214978569insTTTTTCCCTCTCCTCTCTCATCCAAGATTGGTGATAGTTT , CM000664.2:g.214978568_214978569insTTTTTCCCTCTCCTCTCTCATCCAAGATTGGTGATAGTTT	GRCh38
NC_000002.11:g.215843292_215843293insTTTTTCCCTCTCCTCTCTCATCCAAGATTGGTGATAGTTT , CM000664.1:g.215843292_215843293insTTTTTCCCTCTCCTCTCTCATCCAAGATTGGTGATAGTTT	GRCh37
NC_000002.10:g.215551537_215551538insTTTTTCCCTCTCCTCTCTCATCCAAGATTGGTGATAGTTT	NCBI36
NG_007074.1:g.164859_164860insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4978-103_4978-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA MANE Select	ENSP00000272895.7:n.4978-103_4978-102insAAACTATCACCAATCTTGGAT...
ENST00000272895.11:c.4978-103_4978-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA	ENSP00000272895.7:n.4978-103_4978-102insAAACTATCACCAATCTTGGAT...
ENST00000389661.4:c.4024-103_4024-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA	ENSP00000374312.4:n.4024-103_4024-102insAAACTATCACCAATCTTGGAT...
NM_015657.3:c.4024-103_4024-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA	NP_056472.2:n.4024-103_4024-102insAAACTATCACCAATCTTGGATGAGAGA...
NM_173076.2:c.4978-103_4978-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA	NP_775099.2:n.4978-103_4978-102insAAACTATCACCAATCTTGGATGAGAGA...
NR_103740.1:n.5278-103_5278-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA
XM_011510951.1:c.4987-103_4987-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA	XP_011509253.1:n.4987-103_4987-102insAAACTATCACCAATCTTGGATGAG...
XM_011510952.1:c.4987-103_4987-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA	XP_011509254.1:n.4987-103_4987-102insAAACTATCACCAATCTTGGATGAG...
XM_011510951.2:c.4987-103_4987-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA	XP_011509253.1:n.4987-103_4987-102insAAACTATCACCAATCTTGGATGAG...
NM_173076.3:c.4978-103_4978-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA MANE Select	NP_775099.2:n.4978-103_4978-102insAAACTATCACCAATCTTGGATGAGAGA...
NR_103740.2:n.5476-103_5476-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA
NM_015657.4:c.4024-103_4024-102insAAACTATCACCAATCTTGGATGAGAGAGGAGAGGGAAAAA	NP_056472.2:n.4024-103_4024-102insAAACTATCACCAATCTTGGATGAGAGA...