Canonical Allele Identifier: CA1616649434

Gene: CARMIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25533253_25533254delinsAG , CM000668.2:g.25533253_25533254delinsAG	GRCh38
NC_000006.11:g.25533481_25533482delinsAG , CM000668.1:g.25533481_25533482delinsAG	GRCh37
NC_000006.10:g.25641460_25641461delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000700669.1:c.2067+4360_2067+4361delinsAG	ENSP00000515137.1:n.2067+4360_2067+4361de...
ENST00000329474.7:c.2067+4360_2067+4361delinsAG MANE Select	ENSP00000331983.6:n.2067+4360_2067+4361de...
ENST00000329474.6:c.2067+4360_2067+4361delinsAG	ENSP00000331983.6:n.2067+4360_2067+4361de...
ENST00000635618.1:c.849+4360_849+4361delinsAG	ENSP00000489114.1:n.849+4360_849+4361deli...
NM_001173977.1:c.2067+4360_2067+4361delinsAG	NP_001167448.1:n.2067+4360_2067+4361delin...
NM_017640.5:c.2067+4360_2067+4361delinsAG	NP_060110.4:n.2067+4360_2067+4361delinsAG...
XM_005249218.1:c.2067+4360_2067+4361delinsAG	XP_005249275.1:n.2067+4360_2067+4361delin...
XM_011514732.1:c.2067+4360_2067+4361delinsAG	XP_011513034.1:n.2067+4360_2067+4361delin...
XM_011514733.1:c.2067+4360_2067+4361delinsAG	XP_011513035.1:n.2067+4360_2067+4361delin...
XM_011514734.1:c.2007+4360_2007+4361delinsAG	XP_011513036.1:n.2007+4360_2007+4361delin...
XM_011514735.1:c.2067+4360_2067+4361delinsAG	XP_011513037.1:n.2067+4360_2067+4361delin...
XM_011514736.1:c.2067+4360_2067+4361delinsAG	XP_011513038.1:n.2067+4360_2067+4361delin...
XM_011514737.1:c.2067+4360_2067+4361delinsAG	XP_011513039.1:n.2067+4360_2067+4361delin...
XM_017011008.1:c.2079+4360_2079+4361delinsAG	XP_016866497.1:n.2079+4360_2079+4361delin...
XM_017011009.1:c.2079+4360_2079+4361delinsAG	XP_016866498.1:n.2079+4360_2079+4361delin...
XM_017011010.1:c.2067+4360_2067+4361delinsAG	XP_016866499.1:n.2067+4360_2067+4361delin...
XM_017011011.1:c.2079+4360_2079+4361delinsAG	XP_016866500.1:n.2079+4360_2079+4361delin...
XM_017011012.1:c.2079+4360_2079+4361delinsAG	XP_016866501.1:n.2079+4360_2079+4361delin...
XM_017011013.1:c.2079+4360_2079+4361delinsAG	XP_016866502.1:n.2079+4360_2079+4361delin...
XM_017011014.1:c.2019+4360_2019+4361delinsAG	XP_016866503.1:n.2019+4360_2019+4361delin...
XM_017011015.1:c.2079+4360_2079+4361delinsAG	XP_016866504.1:n.2079+4360_2079+4361delin...
XM_017011016.1:c.2079+4360_2079+4361delinsAG	XP_016866505.1:n.2079+4360_2079+4361delin...
XM_017011017.1:c.2079+4360_2079+4361delinsAG	XP_016866506.1:n.2079+4360_2079+4361delin...
XM_024446484.1:c.2079+4360_2079+4361delinsAG	XP_024302252.1:n.2079+4360_2079+4361delin...
XM_024446485.1:c.2079+4360_2079+4361delinsAG	XP_024302253.1:n.2079+4360_2079+4361delin...
NM_017640.6:c.2067+4360_2067+4361delinsAG MANE Select	NP_060110.4:n.2067+4360_2067+4361delinsAG...
NM_001173977.2:c.2067+4360_2067+4361delinsAG	NP_001167448.1:n.2067+4360_2067+4361delin...